"Netherton Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
Rare autosomal recessive disease with variable expressions. Clinical features of the disease include variable ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL; bamboo hair (trichorrhexis invaginata); and ATOPIC DERMATITIS. The disease is caused by mutations in the SPINK5 gene.
| Descriptor ID |
D056770
|
| MeSH Number(s) |
C16.131.077.619 C16.131.831.512.400.705 C16.320.850.673 C16.614.492.400.705 C17.800.428.333.250.705 C17.800.804.512.400.705 C17.800.827.655
|
| Concept/Terms |
|
Below are MeSH descriptors whose meaning is more general than "Netherton Syndrome".
- Diseases [C]
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Congenital Abnormalities [C16.131]
- Abnormalities, Multiple [C16.131.077]
- Netherton Syndrome [C16.131.077.619]
- Skin Abnormalities [C16.131.831]
- Ichthyosis [C16.131.831.512]
- Ichthyosiform Erythroderma, Congenital [C16.131.831.512.400]
- Netherton Syndrome [C16.131.831.512.400.705]
- Genetic Diseases, Inborn [C16.320]
- Skin Diseases, Genetic [C16.320.850]
- Netherton Syndrome [C16.320.850.673]
- Infant, Newborn, Diseases [C16.614]
- Ichthyosis [C16.614.492]
- Ichthyosiform Erythroderma, Congenital [C16.614.492.400]
- Netherton Syndrome [C16.614.492.400.705]
- Skin and Connective Tissue Diseases [C17]
- Skin Diseases [C17.800]
- Keratosis [C17.800.428]
- Ichthyosis [C17.800.428.333]
- Ichthyosiform Erythroderma, Congenital [C17.800.428.333.250]
- Netherton Syndrome [C17.800.428.333.250.705]
- Skin Abnormalities [C17.800.804]
- Ichthyosis [C17.800.804.512]
- Ichthyosiform Erythroderma, Congenital [C17.800.804.512.400]
- Netherton Syndrome [C17.800.804.512.400.705]
- Skin Diseases, Genetic [C17.800.827]
- Netherton Syndrome [C17.800.827.655]
Below are MeSH descriptors whose meaning is more specific than "Netherton Syndrome".
This graph shows the total number of publications written about "Netherton Syndrome" by people in this website by year, and whether "Netherton Syndrome" was a major or minor topic of these publications.
To see the data from this visualization as text,
click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2013 | 1 | 0 | 1 |
| 2019 | 1 | 0 | 1 |
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click here.
Below are the most recent publications written about "Netherton Syndrome" by people in Profiles.
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Di WL, Lwin SM, Petrova A, Bernadis C, Syed F, Farzaneh F, Moulding D, Martinez AE, Sebire NJ, Rampling D, Virasami A, Zamiri M, Wang W, Hara H, Kadiyirire T, Abdul-Wahab A, Martinez-Queipo M, Harper JI, McGrath JA, Thrasher AJ, Mellerio JE, Qasim W. Generation and Clinical Application of Gene-Modified Autologous Epidermal Sheets in Netherton Syndrome: Lessons Learned from a Phase 1 Trial. Hum Gene Ther. 2019 09; 30(9):1067-1078.
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Di WL, Mellerio JE, Bernadis C, Harper J, Abdul-Wahab A, Ghani S, Chan L, Martinez-Queipo M, Hara H, McNicol AM, Farzaneh F, McGrath J, Thrasher A, Qasim W. Phase I study protocol for ex vivo lentiviral gene therapy for the inherited skin disease, Netherton syndrome. Hum Gene Ther Clin Dev. 2013 Dec; 24(4):182-90.